Incidental Mutation 'R7602:Rcan2'
ID 588090
Institutional Source Beutler Lab
Gene Symbol Rcan2
Ensembl Gene ENSMUSG00000039601
Gene Name regulator of calcineurin 2
Synonyms ZAKI-4, MCIP2, Csp2, Dscr1l1
MMRRC Submission 045674-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.064) question?
Stock # R7602 (G1)
Quality Score 225.009
Status Validated
Chromosome 17
Chromosomal Location 44112243-44350407 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 44328689 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 86 (D86G)
Ref Sequence ENSEMBL: ENSMUSP00000039473 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000044792] [ENSMUST00000044895] [ENSMUST00000177857] [ENSMUST00000228972] [ENSMUST00000229240] [ENSMUST00000229744]
AlphaFold Q9JHG2
Predicted Effect probably benign
Transcript: ENSMUST00000044792
AA Change: D40G

PolyPhen 2 Score 0.179 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000048013
Gene: ENSMUSG00000039601
AA Change: D40G

DomainStartEndE-ValueType
Pfam:Calcipressin 20 191 2.1e-64 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000044895
AA Change: D86G

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000039473
Gene: ENSMUSG00000039601
AA Change: D86G

DomainStartEndE-ValueType
Pfam:Calcipressin 66 237 1.3e-66 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000177857
AA Change: D40G

PolyPhen 2 Score 0.179 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000137211
Gene: ENSMUSG00000039601
AA Change: D40G

DomainStartEndE-ValueType
Pfam:Calcipressin 20 191 2.1e-64 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000228972
AA Change: D86G

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
Predicted Effect probably benign
Transcript: ENSMUST00000229240
AA Change: D40G

PolyPhen 2 Score 0.031 (Sensitivity: 0.95; Specificity: 0.82)
Predicted Effect probably benign
Transcript: ENSMUST00000229744
AA Change: D86G

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.2%
Validation Efficiency 100% (58/58)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the regulator of calcineurin (RCAN) protein family. These proteins play a role in many physiological processes by binding to the catalytic domain of calcineurin A, inhibiting calcineurin-mediated nuclear translocation of the transcription factor NFATC1. Expression of this gene in skin fibroblasts is upregulated by thyroid hormone, and the encoded protein may also play a role in endothelial cell function and angiogenesis. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Oct 2011]
PHENOTYPE: Mice homozygous for a knock-out alle exhibit decreased body weight and resistance to diet-induced obesity, steatosis, glucose intolerance, and insulin sensitivity. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700025G04Rik A T 1: 151,856,266 (GRCm39) Y34N probably damaging Het
A2m T C 6: 121,618,966 (GRCm39) V237A probably damaging Het
A2m A T 6: 121,647,895 (GRCm39) D1129V possibly damaging Het
Aadacl2fm3 T C 3: 59,784,697 (GRCm39) I390T probably benign Het
Abca7 A G 10: 79,833,846 (GRCm39) probably null Het
Adam34l C T 8: 44,079,703 (GRCm39) G174R probably damaging Het
Ap3m2 T C 8: 23,282,770 (GRCm39) N256S probably benign Het
Atr C T 9: 95,789,436 (GRCm39) H1531Y possibly damaging Het
Carmil3 C T 14: 55,738,965 (GRCm39) A873V probably null Het
Casp8 A C 1: 58,872,898 (GRCm39) K258T probably benign Het
Cast A G 13: 74,885,084 (GRCm39) S222P probably benign Het
Cpsf7 C T 19: 10,512,737 (GRCm39) P274S probably damaging Het
Ddx24 A T 12: 103,382,519 (GRCm39) L688* probably null Het
Ddx59 A G 1: 136,361,559 (GRCm39) I475V probably benign Het
Dhx29 T A 13: 113,081,093 (GRCm39) S376T possibly damaging Het
Dhx57 G T 17: 80,582,290 (GRCm39) N438K probably benign Het
Dlk1 T A 12: 109,421,551 (GRCm39) probably null Het
Efcab15 T C 11: 103,091,004 (GRCm39) M114V probably benign Het
Epha6 T C 16: 59,595,931 (GRCm39) D920G probably damaging Het
Exo5 A T 4: 120,778,818 (GRCm39) V349E probably benign Het
Fam234b T C 6: 135,202,241 (GRCm39) V321A possibly damaging Het
Gbp3 A G 3: 142,274,822 (GRCm39) E383G probably benign Het
Gga2 T C 7: 121,596,553 (GRCm39) N408S probably benign Het
Gse1 T C 8: 121,296,043 (GRCm39) V532A unknown Het
Hnrnpul2 T C 19: 8,808,673 (GRCm39) Y712H probably damaging Het
Hpca T C 4: 129,014,019 (GRCm39) probably benign Het
Ifitm3 A G 7: 140,590,372 (GRCm39) F63L probably damaging Het
Inava G T 1: 136,153,135 (GRCm39) C252* probably null Het
Kank1 A T 19: 25,399,525 (GRCm39) T940S probably benign Het
Klhl9 C A 4: 88,640,646 (GRCm39) probably benign Het
Krt36 T C 11: 99,993,786 (GRCm39) M351V probably benign Het
Mthfd2 T C 6: 83,288,830 (GRCm39) N125D probably benign Het
Muc4 C G 16: 32,575,221 (GRCm39) Q1269E probably benign Het
Ncoa2 A G 1: 13,247,350 (GRCm39) S358P possibly damaging Het
Nmnat1 T C 4: 149,557,808 (GRCm39) H78R probably benign Het
Or10s1 T G 9: 39,986,455 (GRCm39) L288R probably damaging Het
Or5k1 T C 16: 58,617,343 (GRCm39) I289V possibly damaging Het
Or5m13b A T 2: 85,754,146 (GRCm39) Y178F probably damaging Het
Or9r3 A G 10: 129,948,179 (GRCm39) M160T probably benign Het
Pabpc4 A T 4: 123,186,685 (GRCm39) D302V possibly damaging Het
Pgap1 A T 1: 54,582,345 (GRCm39) S167R probably damaging Het
Phf12 T C 11: 77,914,109 (GRCm39) L517P probably benign Het
Ryk T C 9: 102,775,715 (GRCm39) Y442H probably damaging Het
Scfd2 G T 5: 74,623,271 (GRCm39) Q421K probably benign Het
Sirpa G T 2: 129,451,072 (GRCm39) V111F probably damaging Het
Skint4 A T 4: 111,975,468 (GRCm39) T143S possibly damaging Het
Slc12a8 C A 16: 33,445,494 (GRCm39) H463N probably benign Het
Sp110 G A 1: 85,506,813 (GRCm39) R417C probably benign Het
Sptlc2 A G 12: 87,388,463 (GRCm39) Y340H probably damaging Het
Ssc5d T A 7: 4,945,745 (GRCm39) W926R possibly damaging Het
Tgfa A G 6: 86,246,944 (GRCm39) E82G probably damaging Het
Thrsp A G 7: 97,066,514 (GRCm39) I66T probably damaging Het
Ttn T C 2: 76,681,988 (GRCm39) E1003G unknown Het
Tube1 A T 10: 39,018,262 (GRCm39) H113L probably benign Het
Uri1 A G 7: 37,681,053 (GRCm39) V117A probably benign Het
Ush2a G A 1: 188,380,606 (GRCm39) C2305Y probably damaging Het
Zbtb7a T G 10: 80,980,010 (GRCm39) V68G probably damaging Het
Zfr T A 15: 12,159,763 (GRCm39) D686E possibly damaging Het
Zscan4f G A 7: 11,135,308 (GRCm39) S238N possibly damaging Het
Other mutations in Rcan2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00160:Rcan2 APN 17 44,347,960 (GRCm39) missense possibly damaging 0.61
IGL00430:Rcan2 APN 17 44,147,275 (GRCm39) missense probably benign 0.08
IGL00958:Rcan2 APN 17 44,347,908 (GRCm39) missense probably damaging 1.00
IGL01121:Rcan2 APN 17 44,328,775 (GRCm39) missense probably damaging 0.99
IGL01397:Rcan2 APN 17 44,147,359 (GRCm39) missense possibly damaging 0.56
IGL01897:Rcan2 APN 17 44,147,325 (GRCm39) missense probably damaging 0.99
R1510:Rcan2 UTSW 17 44,147,315 (GRCm39) missense probably damaging 1.00
R1803:Rcan2 UTSW 17 44,347,924 (GRCm39) missense probably damaging 1.00
R1862:Rcan2 UTSW 17 44,347,980 (GRCm39) splice site probably null
R3841:Rcan2 UTSW 17 44,347,870 (GRCm39) missense probably benign 0.25
R4241:Rcan2 UTSW 17 44,264,370 (GRCm39) missense probably benign 0.03
R4402:Rcan2 UTSW 17 44,264,361 (GRCm39) missense probably benign 0.00
R4955:Rcan2 UTSW 17 44,347,972 (GRCm39) missense probably damaging 1.00
R5014:Rcan2 UTSW 17 44,328,704 (GRCm39) missense probably damaging 1.00
R5470:Rcan2 UTSW 17 44,147,174 (GRCm39) missense probably benign 0.02
R5555:Rcan2 UTSW 17 44,347,921 (GRCm39) missense probably damaging 1.00
R6393:Rcan2 UTSW 17 44,264,370 (GRCm39) missense probably benign 0.03
R6478:Rcan2 UTSW 17 44,147,225 (GRCm39) missense probably benign
R7007:Rcan2 UTSW 17 44,147,216 (GRCm39) missense probably benign
R7307:Rcan2 UTSW 17 44,331,993 (GRCm39) nonsense probably null
R9044:Rcan2 UTSW 17 44,147,245 (GRCm39) missense probably benign 0.30
R9199:Rcan2 UTSW 17 44,264,423 (GRCm39) missense probably benign
R9251:Rcan2 UTSW 17 44,328,701 (GRCm39) missense possibly damaging 0.94
Predicted Primers PCR Primer
(F):5'- GAAGGAAGCTTATGTTTCTAGCC -3'
(R):5'- GCATGAATGTATTGCCCACACTTATG -3'

Sequencing Primer
(F):5'- GAAGCTTATGTTTCTAGCCACTGTGC -3'
(R):5'- TGTGAACCACCATGTGCATG -3'
Posted On 2019-10-24